Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Autor: Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles

Publikováno v: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015

Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015

Isoforms of protein 4.1 are differentially distributed in heart muscle cells: Relation of 4.1R and 4.1G to components of the Ca2+ homeostasis system

Autor: Edward Carter, Mark R. Holt, Anthony J. Baines, Pauline M. Bennett, Jennifer C. Pinder, Mikayala D.A. King, Alison M. Maggs, Pamela M. Taylor-Harris, Nandini V. L. Hayes, Philippe Gascard

Publikováno v: Experimental Cell Research. 318:1467-1479

The 4.1 proteins are cytoskeletal adaptor proteins that are linked to the control of mechanical stability of certain membranes and to the cellular accumulation and cell surface display of diverse transmembrane proteins. One of the four mammalian 4.1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c0e9a988e98d21307d5b30a345a74b
https://doi.org/10.1016/j.yexcr.2012.03.003

Phase mixing and phase separation accompanying the catalytic oxidation of CO on Ir{1 0 0}

Autor: T.J. Lerotholi, D.A. King, Georg Held

Publikováno v: Surface Science. 601:1285-1295

The co-adsorption of CO and O on the unreconstructed (1 × 1) phase of Ir{1 0 0} was examined by low energy electron diffraction (LEED) and temperature programmed desorption (TPD). When CO is adsorbed at 188 K onto the Ir{1 0 0} surface precovered wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58d7edb4efe20a265b682cd8903a6837
https://doi.org/10.1016/j.susc.2006.12.067

Hydrogen bonds at metal surfaces: Universal scaling and quantification of substrate effects

Autor: Stephen J. Jenkins, D.A. King, Glenn Jones

Publikováno v: Surface Science. 600:224-228

Simple bio-molecules demonstrate a propensity to form hydrogen-bonded networks. Here, individual hydrogen-bond energies are determined through topological analysis of the theoretical electron density for a variety of systems, demonstrating the existe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b6bb72692f162a9afca871e54a7dc90d
https://doi.org/10.1016/j.susc.2006.05.053

The adsorption geometry of sulphur on Ir{100}: A quantitative LEED study

Autor: T.J. Lerotholi, Georg Held, D.A. King

Publikováno v: Surface Science. 600:880-889

A quantitative low energy electron diffraction (LEED) analysis has been performed for the p(2 × 2)-S and c(2 × 2)-S surface structures formed by exposing the (1 × 1) phase of Ir{1 0 0} to H 2 S at 750 K. S is found to adsorb on the fourfold hollow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03a463a3640f543b9ba31183fdc58b88
https://doi.org/10.1016/j.susc.2005.12.019